Online Mendelian Inheritance in Man - LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
Synonyms	BRUNZELL SYNDROME, AGPAT2-RELATED CGL1 LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 1 BSCL1 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 1
ID	http://purl.bioontology.org/ontology/OMIM/608594
altLabel	BRUNZELL SYNDROME, AGPAT2-RELATED CGL1 LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 1 BSCL1 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 1
cui	C1720862
Gene Locus	9q34.3
Gene Symbol	BSCL1 AGPAT2 LPAAB BSCL
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU002598 http://purl.bioontology.org/ontology/OMIM/MTHU002091 http://purl.bioontology.org/ontology/OMIM/MTHU000372 http://purl.bioontology.org/ontology/OMIM/MTHU001452 http://purl.bioontology.org/ontology/OMIM/MTHU002079 http://purl.bioontology.org/ontology/OMIM/MTHU002083 http://purl.bioontology.org/ontology/OMIM/MTHU036369 http://purl.bioontology.org/ontology/OMIM/MTHU001221 http://purl.bioontology.org/ontology/OMIM/MTHU002076 http://purl.bioontology.org/ontology/OMIM/MTHU002085 http://purl.bioontology.org/ontology/OMIM/MTHU002072 http://purl.bioontology.org/ontology/OMIM/MTHU002078 http://purl.bioontology.org/ontology/OMIM/MTHU014363 http://purl.bioontology.org/ontology/OMIM/MTHU036362 http://purl.bioontology.org/ontology/OMIM/MTHU002087 http://purl.bioontology.org/ontology/OMIM/MTHU002073 http://purl.bioontology.org/ontology/OMIM/MTHU002089 http://purl.bioontology.org/ontology/OMIM/MTHU002077 http://purl.bioontology.org/ontology/OMIM/MTHU002074 http://purl.bioontology.org/ontology/OMIM/MTHU002092 http://purl.bioontology.org/ontology/OMIM/MTHU030294 http://purl.bioontology.org/ontology/OMIM/MTHU010581 http://purl.bioontology.org/ontology/OMIM/MTHU002088 http://purl.bioontology.org/ontology/OMIM/MTHU002090 http://purl.bioontology.org/ontology/OMIM/MTHU053771 http://purl.bioontology.org/ontology/OMIM/MTHU007103 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU002086 http://purl.bioontology.org/ontology/OMIM/MTHU002084 http://purl.bioontology.org/ontology/OMIM/MTHU002081 http://purl.bioontology.org/ontology/OMIM/MTHU002054 http://purl.bioontology.org/ontology/OMIM/MTHU002075 http://purl.bioontology.org/ontology/OMIM/MTHU002080 http://purl.bioontology.org/ontology/OMIM/MTHU002082
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	608594
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
Scope Statement	Caused by mutations in the 1-acylglycerol-3-phosphate O-acyltransferase 2 gene (AGPAT2, 603100.0001) [MOLECULAR BASIS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D052497	MESH	CUI
http://purl.bioontology.org/ontology/MSHFRE/D052497	MSHFRE	CUI